Iranian Journal of Pediatrics最新文献

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Cystic Hydatid Disease in Children in Gorgan from 2014 to 2021 2014 - 2021年戈尔根地区儿童囊性包虫病
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-16 DOI: 10.5812/ijp-136687
Leila Barati, Lobat Shahkar, Amirmohammad Raeiji, Gholamreza Veghari
{"title":"Cystic Hydatid Disease in Children in Gorgan from 2014 to 2021","authors":"Leila Barati, Lobat Shahkar, Amirmohammad Raeiji, Gholamreza Veghari","doi":"10.5812/ijp-136687","DOIUrl":"https://doi.org/10.5812/ijp-136687","url":null,"abstract":"Background: Cystic hydatid disease is a serious human cestode infection caused by the larval stage of Echinococcus granulosus. Hydatidosis is an important health and economic problem in Iran. Objectives: This study aims to investigate clinical manifestations, laboratory findings, and imaging of hydatidosis in children. Methods: This cross-sectional descriptive study was conducted based on the information recorded in the files of patients hospitalized due to hydatidosis at the Taleghani Children's Hospital in Gorgan from 2014 to 2021. The data was analyzed with the help of SPSS software version 25, utilizing descriptive statistics and the chi-square test. Results: Out of 58,974 patients admitted to Taleghani Hospital during 2014 - 2021, the frequency of hydatidosis was 42 (0.071%) cases. The patients comprised 78.5% boys and 21.5% girls, with an average age of 8.5 years ranging from 3 to 17 years old. A significant statistical difference was seen between the sexes (P = 0.012). There was a history of close contact with animals in 76.2% of patients and 73.9% of children in the village. The frequency of the total cyst was 75, and the most common location of the cyst was in the liver (60%) in the right lobe of the liver (54.6%) and then in the lung (36%) in the RLL region (17.4%). Single cysts (57.1%), unifocal cysts (61.9%), and CE1 cysts (40%) had the highest frequency. The most common symptom of liver involvement was abdominal pain (59.5%) and chronic cough in lung cysts (45.2%). Cysts with a size of 5 - 10 cm had the highest frequency (52%), and most were hypoechoic (48%). Positive serology test was reported in 11 cases (26.2%) and positive pathology in 22 cases (52.4%). The chance of hydatidosis in boys was 2.5 times higher than in girls, and in rural areas, it was more than three times higher than in urban areas. Conclusions: In this study, hydatidosis was more common in village boys aged 3-9. The liver and lung involvement were common, which required surgery in most cases. Considering the high prevalence of this disease in Gorgan, it is necessary to design an intervention plan to reduce children's burden, and a multidisciplinary approach should be planned to reduce its mortality and morbidity among children.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136113068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Urtica dioica (Nettle) in Type 1 Diabetes Mellitus: A Randomized Controlled Trial 1型糖尿病的荨麻:一项随机对照试验
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-09 DOI: 10.5812/ijp-137563
Maryam Shahrokhi, Shahin Koohmanaee, Reyhaneh Haghghi, Afagh Hassanzadeh Rad, Mohammad Ali Esfandiari, Shirin Parvinroo, Setila Dalili
{"title":"Urtica dioica (Nettle) in Type 1 Diabetes Mellitus: A Randomized Controlled Trial","authors":"Maryam Shahrokhi, Shahin Koohmanaee, Reyhaneh Haghghi, Afagh Hassanzadeh Rad, Mohammad Ali Esfandiari, Shirin Parvinroo, Setila Dalili","doi":"10.5812/ijp-137563","DOIUrl":"https://doi.org/10.5812/ijp-137563","url":null,"abstract":"Background: As the role of nettle supplementation for type 1 diabetic patients is still unclear, we aimed to evaluate the impact of nettle supplementation on children with type 1 diabetes mellitus. Methods: In this single-blind randomized controlled trial, 50 patients with type one diabetes aged 12 - 18 with improper glycemic parameters (HbA1c greater than 6.5 mg/dL) received either insulin with 5 cc of nettle syrup (i.e., quercetin-based on at least 0.04 mg/mL of chlorogenic acid) twice daily for 12 weeks, or insulin monotherapy. Demographic characteristics, fasting blood sugar, HbA1c, blood urea nitrogen (BUN), serum creatinine, and insulin dosage were investigated at the beginning of the study and at multiple intervals in both groups. Results: Changes in fasting blood sugar (FBS), HbA1c, mean dose of rapid-acting and long-acting insulin, and mean total insulin dose were significant in both groups, and the increase in total insulin dose was significantly lower in the intervention group (P < 0.05). The trend of BUN and serum creatinine changes was not significant over time (P = 0.532 and P = 0.785, respectively). Conclusions: We found lower total insulin dose in the intervention group that may emphasize the positive effect of nettle concomitant use through insulin secretion or sensitizing effect.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"117 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135095460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel Compound Heterozygous Mutations of the SLC12A3 Gene in Gitelman Syndrome with Growth Hormone Deficiency and Hypothyroidism SLC12A3基因在Gitelman综合征合并生长激素缺乏和甲状腺功能减退中的新型复合杂合突变
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-08 DOI: 10.5812/ijp-134766
Yaping Ma, Zhuangjian Xu
{"title":"Novel Compound Heterozygous Mutations of the SLC12A3 Gene in Gitelman Syndrome with Growth Hormone Deficiency and Hypothyroidism","authors":"Yaping Ma, Zhuangjian Xu","doi":"10.5812/ijp-134766","DOIUrl":"https://doi.org/10.5812/ijp-134766","url":null,"abstract":"Introduction: Gitelman syndrome (GS) is an inherited kidney disease that causes an imbalance of charged ions in the body. SLC12A3 mutation is the predominant cause of GS. There are different known and unknown pathogenic mutations in SLC12A3. Case Presentation: In the present case report, an 8-year-old girl was referred to our pediatric endocrinology clinic for evaluation of short stature. Her height was 113 cm (-2.94 SD). Her growth hormone peak was 5.81 ng/mL. IGF-1 was lower than -2SD. Thyroid stimulating hormone was high. The blood potassium was 3.37 mmol/L. After 3 months of GH treatment, her blood potassium dropped further (3.01 mmol/L). The gene test results showed that there were two heterozygous mutations of the SLC12A3 gene: C.1456G&gt;A (p.D486N) and c.1065_1072 delGCAGGG (p.A356Qfs*5), which her parents verified. Conclusions: Gitelman syndrome can be associated with growth hormone deficiency and hypothyroidism in addition to short stature, hypokalemia, and hypomagnesemia, and the underlying molecular mechanisms need to be explored in the coexistence of these three diseases. The experience, in this case, is that blood electrolytes should be checked monthly for the first three months after growth hormone treatment for short stature. Once the blood potassium level is low, much attention should be paid to further diagnosis to avoid misdiagnosis.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"32 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Toothache and its Determinants in 12-Year-Old Iranian Children: A Cross-Sectional Study 12岁伊朗儿童牙痛及其决定因素:一项横断面研究
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-08 DOI: 10.5812/ijp-137363
Setareh Salehi, Arash Shahravan, Hamed Manochehrifar, Nader Navabi, Amir Nekouei
{"title":"Toothache and its Determinants in 12-Year-Old Iranian Children: A Cross-Sectional Study","authors":"Setareh Salehi, Arash Shahravan, Hamed Manochehrifar, Nader Navabi, Amir Nekouei","doi":"10.5812/ijp-137363","DOIUrl":"https://doi.org/10.5812/ijp-137363","url":null,"abstract":"Background: Toothache is a common condition among children that often leads to school absenteeism. However, there is limited information on the prevalence of toothache and its associated factors in Iranian children. Objectives: This study aimed to assess the prevalence of toothache and related factors in 12-year-old Iranian children. Methods: This was a cross-sectional population-based study. Multistage cluster sampling was used to recruit the participants from three provinces (Tehran, Kerman, and Fars). Parents of 1,468 students aged 12 years completed a valid questionnaire that assessed their socioeconomic status and the children’s oral hygiene behavior, toothache, and absenteeism in the last 6 months. A multivariate random effects logistic regression model was adopted to analyze the effect of demographic, geographic, and oral hygiene practice factors on toothache prevalence. Results: The prevalence of toothache in children was high, with 41% (95% CI = 38.4, 43.5) of the children reporting toothache. Of the children who had a toothache, 12.8% missed 1 to 7 school days. The prevalence of toothache was significantly higher in children living in cities compared to those living in towns (P","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"95 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Analysis of Clinical Characteristics and Gene Variants Associated with Primary Ciliary Dyskinesia 原发性纤毛运动障碍的临床特征和基因变异分析
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-08 DOI: 10.5812/ijp-132964
Qionghua Chen, Jingyang Zheng, lie Zeng, Liduan Su, Chunyan Lin, Dongyi Pan
{"title":"Analysis of Clinical Characteristics and Gene Variants Associated with Primary Ciliary Dyskinesia","authors":"Qionghua Chen, Jingyang Zheng, lie Zeng, Liduan Su, Chunyan Lin, Dongyi Pan","doi":"10.5812/ijp-132964","DOIUrl":"https://doi.org/10.5812/ijp-132964","url":null,"abstract":"Background: Primary ciliary dyskinesia (PCD) is considered a monogenic heterogeneous recessive disorder. Objectives: This study aimed to identify clinical characteristics and gene mutations in children with PCD admitted to Quanzhou Women’s and Children’s hospital in China from January 2019 to January 2022. Methods: Clinical manifestations, lung imaging, transmission electron microscopy (TEM) findings, and genetic test results were analyzed in this study. Results: For 8 patients, PCD manifestations included asthma, total visceral inversion, secretory otitis media, adenoid hypertrophy, gastroesophageal reflux, intestinal malrotation with midgut torsion, and bronchiectasis. Primary ciliary dyskinesia-associated gene variants included DNAH11, DNAH5, RSPH4A, and CFAP300. Novel variants of DNAH11 (c.5460 + 5G &gt; C, c.117499_11752delGTTA, and c.5822G &gt; C), DNAH5 (c.4314delT and c.877dupA), RSPH4A (c.1774_1775delTT and c.1949A &gt; G), and CFAP300 (c.603delG) were found in these children. Conclusions: Recurrent cough, expectoration, purulent discharge, bronchiectasis, and visceral inversion provide clues for diagnosing early-onset PCD. Transmission electron microscopy and genetic testing improve early diagnosis, treatment delivery, and prognosis. Novel genotypes identified in this study expand the PCD genotypic spectrum.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"6 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135198839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Normal Values of Nerve Conduction Studies in Children Aged 7 Days to 14 Years Referred to Electrodiagnosis Clinic of Iranian Children's Medical Center 伊朗儿童医学中心电诊断门诊7天至14岁儿童神经传导正常值研究
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-08 DOI: 10.5812/ijp-137205
Masood Ghahvechi Akbari, Fazel Mahmoodpoor, MahmoodReza Ashrafi, Elahe Rezaee, Sahar Ghorbanpour, Seyede Zahra Emami Razavi, Mohaddeseh Azadvari, Reza Shervin Badv, Gholamreza Zamani, Ali Reza Tavasoli, Morteza Heidari, Zahra Rezaei, Setareh Rohani, Mahmoud Mohammadi
{"title":"Normal Values of Nerve Conduction Studies in Children Aged 7 Days to 14 Years Referred to Electrodiagnosis Clinic of Iranian Children's Medical Center","authors":"Masood Ghahvechi Akbari, Fazel Mahmoodpoor, MahmoodReza Ashrafi, Elahe Rezaee, Sahar Ghorbanpour, Seyede Zahra Emami Razavi, Mohaddeseh Azadvari, Reza Shervin Badv, Gholamreza Zamani, Ali Reza Tavasoli, Morteza Heidari, Zahra Rezaei, Setareh Rohani, Mahmoud Mohammadi","doi":"10.5812/ijp-137205","DOIUrl":"https://doi.org/10.5812/ijp-137205","url":null,"abstract":"Background: The normal values of nerve conduction studies (NCS) are different in children compared to adults. Moreover, racial and geographical factors can affect these values. Objectives: The present study aimed to investigate the normal NCS values in children of different ages. Methods: The present cross-sectional study included children referred to the Electrodiagnosis Clinic of the Children's Medical Center in Iran, who had normal NCS results based on the references and had no exclusion criteria. The patients were divided into 8 age groups (7 days to one month, 1 - 3 months, 3 - 6 months, 6 - 12 months, 1 - 2 years, 2 - 4 years, 4 - 6 years, and 6 - 14 years), and the NCS was performed using a Nihon Kohden electromyogram. The NCS values in the normal range were included in the analysis. Results: The normal ranges of amplitude and conduction velocity of 4 motor nerves (median, ulnar, deep peroneal, and tibial) and 2 sensory nerves (median and medial plantar), as well as the F-wave latency values of 2 nerves (ulnar and tibial), were established as the reference values for the pediatric patients. Conclusions: The NCS parameters of Iranian children were slightly different from the normal references reported by studies in other countries. Moreover, the SNAP and CMAP amplitudes and motor conduction velocity of these children usually reached the normal values of the adult population earlier.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"197 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serum Omentin-1 Levels in Obese Adolescents with Vitamin D Deficiency: A Prospective Cross-Sectional Study 维生素D缺乏的肥胖青少年血清Omentin-1水平:一项前瞻性横断面研究
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-08 DOI: 10.5812/ijp-137958
Meltem Erol, Fatih Karan, Abdulrahman Ozel, Ozlem Bostan Gayret, Oguzhan Zengi
{"title":"Serum Omentin-1 Levels in Obese Adolescents with Vitamin D Deficiency: A Prospective Cross-Sectional Study","authors":"Meltem Erol, Fatih Karan, Abdulrahman Ozel, Ozlem Bostan Gayret, Oguzhan Zengi","doi":"10.5812/ijp-137958","DOIUrl":"https://doi.org/10.5812/ijp-137958","url":null,"abstract":"Background: Vitamin D deficiency is common in obese adolescents. It modulates the release of omentin 1 from adipose tissue. We believe that both vitamin D and omentin 1 affect each other in adipose tissue via inflammation. Objectives: This study aimed to examine serum omentin-1 levels in obese adolescents with vitamin D (Vit D) deficiency. Methods: In this cross-sectional prospective study, 83 obese adolescents were included. Serum 25-hydroxy vitamin D (25(OH)D) concentrations, fasting glucose, and lipid profiles of obese adolescents were studied. At the same time, blood was drawn into a separate tube to study the omentin 1 level. Of the 83 obese cases, 45 with 25(OH)D concentrations below 20 ng/mL were considered as the study group, and 38 with 25(OH)D concentrations ≥ 20 ng/mL as the control group. Serum omentin-1 levels were evaluated and compared. Results: The average 25(OH)D value in the study and control groups was 17.14 ± 2.22 ng/mL and 45.29 ± 24.98 ng/mL, respectively. The average omentin-1 concentration of the control group was 262.5 ± 136.31 ng/mL, and the mean omentin-1 level of the study group was 113.23 ± 15.98 ng/mL. The mean omentin-1 concentrations of the study group were significantly lower compared to the control group (P = 0.0001). There was a significant and positive correlation between omentin-1 and 25(OH)D (r = 0.988 P = 0.0001). In univariate tests, linear regression analysis was carried out with 25(OH)D and omentin-1, and 25(OH)D displayed a significant positive correlation (P = 0.0001). The optimal cut-off point for the serum omentin-1 concentration was 135.01 ng/mL. No significant correlation was determined between omentin-1 and body mass index, lipid profile, glucose, and insulin variables (P > 0.05). Conclusions: We showed significantly low concentrations of serum omentin-1 in obese adolescents with vitamin D deficiency. Serum omentin-1 can be employed as a biomarker in obese adolescents with vitamin D deficiency.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"95 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Granulocyte Colony-Stimulating Factor (G-CSF): Is It Effective for Feeding Tolerance in Very Low Birth Weight Infants? 粒细胞集落刺激因子(G-CSF):对极低出生体重儿的喂养耐受有效吗?
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-10-08 DOI: 10.5812/ijp-139592
Zahra Akbarian Rad, Elham Farahanian, Mousa Ahmadpour-Kacho, Yadollah Zahedpasha, Soraya Khafri, Zahra Valizadeh-Chari, Mohsen Haghshenas Mojaveri
{"title":"Granulocyte Colony-Stimulating Factor (G-CSF): Is It Effective for Feeding Tolerance in Very Low Birth Weight Infants?","authors":"Zahra Akbarian Rad, Elham Farahanian, Mousa Ahmadpour-Kacho, Yadollah Zahedpasha, Soraya Khafri, Zahra Valizadeh-Chari, Mohsen Haghshenas Mojaveri","doi":"10.5812/ijp-139592","DOIUrl":"https://doi.org/10.5812/ijp-139592","url":null,"abstract":"Background: Feeding intolerance is one of the most common problems in very low birth weight infants. Granulocyte colony-stimulating factor (G-CSF), one of the cytokines in amniotic fluid and human milk, plays an important role in gut maturation. Objectives: The aim of this study was to evaluate the effect of oral administration of G-CSF on feeding tolerance in preterm infants weighing ≤ 1200 g. Methods: This randomized, single-blind, placebo-controlled clinical study was conducted between September 2018 and June 2019 on preterm infants (≤ 32 weeks) weighing ≤ 1200 g and matched in terms of gestational age, birth weight, and umbilical cord pH. The intervention group received G-CSF by gavage simultaneously with the start of enteral feeding stopped after 10 days. The primary outcome was the duration of infant milk that reached 50, 75, and 100 mL/kg/day, and the secondary outcomes were the onset of weight gain and the length of hospital stay. Results: Out of 68 eligible infants, 31 infants in each group completed the study. There was no significant difference between the two groups in terms of the length of hospital stay and the duration of reaching a feeding volume of 50 and 75 mL/kg/day; nonetheless, the duration of reaching a feeding volume of 100 mL/kg/day and the time to start gaining weight in the case group were significantly shorter than those of the control group (P = 0.029 and P = 0.002, respectively). Conclusions: The oral administration of G-CSF in preterm infants ≤ 1200 g improves feeding tolerance and can further shorten the time to reach full enteral feeding.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"40 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Genetic Analysis in Cases with Hunter Syndrome in Whom IDS Gene Mutations Could Not Be Detected: RNA Sequencing 无法检测到IDS基因突变的Hunter综合征病例的新遗传分析:RNA测序
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-09-25 DOI: 10.5812/ijp-138217
Abdurrahman Akgun, Bora Ergin, Huseyin Bilgin, Serdar Ceylaner
{"title":"New Genetic Analysis in Cases with Hunter Syndrome in Whom IDS Gene Mutations Could Not Be Detected: RNA Sequencing","authors":"Abdurrahman Akgun, Bora Ergin, Huseyin Bilgin, Serdar Ceylaner","doi":"10.5812/ijp-138217","DOIUrl":"https://doi.org/10.5812/ijp-138217","url":null,"abstract":"Introduction: Mucopolysaccharidosis-II (MPSII) is diagnosed based on a deficiency in iduronate 2-sulfatase enzyme activity. Detection of a hemizygous pathogenic variant in the iduronate 2-sulfatase (IDS) gene confirms the diagnosis in a male proband. Case Presentation: We report a five-year-old boy with MPSII in whom no mutation was detected in the IDS gene by next-generation sequencing (Miseq-Illumina) covering the coding regions of the gene. Therefore, we tried to detect the mutation in the IDS gene using RNA sequencing that has recently been used. Conclusions: In some diseases diagnosed by clinical and biochemical methods, mutations cannot be detected even with advanced genetic methods, such as next-generation sequencing. In these cases, we emphasize that mutations should be investigated using other methods, including RNA sequencing.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"240 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135859805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Medication Non-Adherence Among Pediatric Liver Transplant Recipients 儿童肝移植受者的药物依从性
4区 医学
Iranian Journal of Pediatrics Pub Date : 2023-09-16 DOI: 10.5812/ijp-134365
Alireza Shamsaeefar, Nasrin Motazedian, Mehrab Sayadi, Amirali Mashhadiagha, Azar Kazemi, Seyed Mohsen Dehghani, Farsad Afshinnia, Kourosh Kazemi, Seyed Ali Malekhosseini
{"title":"Medication Non-Adherence Among Pediatric Liver Transplant Recipients","authors":"Alireza Shamsaeefar, Nasrin Motazedian, Mehrab Sayadi, Amirali Mashhadiagha, Azar Kazemi, Seyed Mohsen Dehghani, Farsad Afshinnia, Kourosh Kazemi, Seyed Ali Malekhosseini","doi":"10.5812/ijp-134365","DOIUrl":"https://doi.org/10.5812/ijp-134365","url":null,"abstract":"Background: More and more children are undergoing liver transplantation and reaching adolescence, even though they must take immunosuppressant drugs for their entire lives. Objectives: This study aimed to determine the non-adherence rate in liver transplant recipients and identify its potential etiologies. Methods: A cross-sectional survey was performed to assay medication adherence among pediatric liver transplant recipients in Shiraz, Iran. The patients' demographic, socioeconomic, and clinical characteristics were collected via interviews. Medication adherence was assessed using a validated Morisky 8-item Medication Adherence Questionnaire (MMAS-8). Results: A total of 157 patients with a mean age of 12.73 ± 4.02 participated in this study. Based on the Morisky adherence scores, 12.1% (n = 19), 25.5% (n = 40), and 62.4% (n = 98) were categorized as low, moderate, and high adherence groups, respectively. Among all studied variables, and follow-up time after transplant were significantly associated with adherence among children after liver transplantation in Iran. Conclusions: The rate and reported causes of non-adherence are similar to those found in previous studies, which is quite remarkable. Proper instruction, financial aid, and recruitment of new technologies are among the strategies to overcome non-adherence.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"354 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135306090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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